A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3497



Internal ID15548112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33449048..33488305hg38UCSC Ensembl
Outerchr21:34821355..34860612hg19UCSC Ensembl
Outerchr21:33743225..33782482hg18UCSC Ensembl
Outerchr21:33743225..33782482hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg388915
hg198915
hg188915
hg178915
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6955, nssv1624, nssv5900, nssv9604, nssv11044, nssv10311, nssv2346, nssv4554
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA19240, NA19129
Known GenesDNAJC28, TMEM50B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3497
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer